HSD17B7

protein-coding

hydroxysteroid 17-beta dehydrogenase 7, the group of Short chain dehydrogenase/reductase superfamily

Gene summary

HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]

MANE transcript

NM_016371.4

Inheritance

—

ClinVar variants

U:48B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr1:162,790,702-162,812,823

External References & Databases

Ensembl (ENSG00000132196)

Transcript & Mutation Effects

hg38 • Region Span ~22.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HSD17B7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 48

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016371.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			47 clinvar	2 clinvar	1 clinvar	50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	48	3	2	53

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016371.4	RefSeq	NP_057455.1	9	MANE Select
ENST00000254521.8	Ensembl	ENSP00000254521.3	9	MANE Select
NM_001304512.2	RefSeq	NP_001291441.1	4	Standard
NM_001304513.2	RefSeq	NP_001291442.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Steroid hormone biosynthesis - Homo sapiens (human)
Steroid biosynthesis - Homo sapiens (human)
Ovarian steroidogenesis - Homo sapiens (human)
Simvastatin Action Pathway
Pravastatin Action Pathway

Biological Process

cholesterol biosynthetic process
estrogen biosynthetic process
oxidation-reduction process

Molecular Function

3-keto sterol reductase activity
estradiol 17-beta-dehydrogenase activity

Cellular Component

endoplasmic reticulum
endoplasmic reticulum membrane
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000254521
Coding exons: 9
Length: 22116
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 125748
p: 0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.588	159	181	0.877	0.00000905	2236
Missense (PolyPhen)		41	53.917	0.76042		653
Synonymous	-0.353	74	70.2	1.05	0.00000355	660
Loss of Function	1.12	10	14.6	0.684	6.16e-7	182

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00038	0.00038	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.000079	0.000079	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Responsible for the reduction of the keto group on the C-3 of sterols. {ECO:0000269|PubMed:12829805}.;

Intolerance Scores

LoFtool: 0.478
RVIS EVS: 0.02
RVIS percentile EVS: 55.22

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.893

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium